Evidence Details for FAIM2
Basic Information Top
Gene Symbol: | FAIM2 ( KIAA0950,LFG,LFG2,NGP35,NMP35,TMBIM2 ) |
---|---|
Gene Full Name: | Fas apoptotic inhibitory molecule 2 |
Band: | 12q13.12 |
Quick Links | Entrez ID:23017; OMIM: 604306; Uniprot ID:FAIM2_HUMAN; ENSEMBL ID: ENSG00000135472; HGNC ID: 17067 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>FAIM2|23017|nucleotide
ATGACCCAGGGAAAGCTCTCCGTGGCTAACAAGGCCCCTGGGACCGAGGGGCAGCAGCAGGTGCATGGCGAGAAGAAGGAGGCTCCAGCAGTGCCCTCAGCCCCA
CCCTCCTATGAGGAAGCCACCTCTGGGGAGGGGATGAAGGCAGGGGCCTTCCCCCCAGCCCCCACAGCGGTGCCTCTCCACCCTAGCTGGGCCTATGTGGACCCC
AGCAGCAGCTCCAGCTATGACAACGGTTTCCCCACCGGAGACCATGAGCTCTTCACCACTTTCAGCTGGGATGACCAGAAAGTTCGTCGAGTCTTTGTCAGAAAG
GTCTACACCATCCTGCTGATTCAGCTGCTGGTGACCTTGGCTGTCGTGGCTCTCTTTACTTTCTGTGACCCTGTCAAGGACTATGTCCAGGCCAACCCAGGCTGG
TACTGGGCATCCTATGCTGTGTTCTTTGCAACCTACCTGACCCTGGCTTGCTGTTCTGGACCCAGGAGGCATTTCCCCTGGAACCTGATTCTCCTGACCGTCTTT
ACCCTGTCCATGGCCTACCTCACTGGGATGCTGTCCAGCTACTACAACACCACCTCCGTGCTGCTGTGCCTGGGCATCACGGCCCTTGTCTGCCTCTCAGTCACC
GTCTTCAGCTTCCAGACCAAGTTCGACTTCACCTCCTGCCAGGGCGTGCTCTTCGTGCTTCTCATGACTCTTTTCTTCAGCGGACTCATCCTGGCCATCCTCCTA
CCCTTCCAATATGTGCCCTGGCTCCATGCAGTTTATGCAGCACTGGGAGCGGGTGTATTTACATTGTTCCTGGCACTTGACACCCAGTTGCTGATGGGTAACCGA
CGCCACTCGCTGAGCCCTGAGGAGTATATTTTTGGAGCCCTCAACATTTACCTAGACATCATCTATATCTTCACCTTCTTCCTGCAGCTTTTTGGCACTAACCGA
GAATGA
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ATGACCCAGGGAAAGCTCTCCGTGGCTAACAAGGCCCCTGGGACCGAGGGGCAGCAGCAGGTGCATGGCGAGAAGAAGGAGGCTCCAGCAGTGCCCTCAGCCCCA
CCCTCCTATGAGGAAGCCACCTCTGGGGAGGGGATGAAGGCAGGGGCCTTCCCCCCAGCCCCCACAGCGGTGCCTCTCCACCCTAGCTGGGCCTATGTGGACCCC
AGCAGCAGCTCCAGCTATGACAACGGTTTCCCCACCGGAGACCATGAGCTCTTCACCACTTTCAGCTGGGATGACCAGAAAGTTCGTCGAGTCTTTGTCAGAAAG
GTCTACACCATCCTGCTGATTCAGCTGCTGGTGACCTTGGCTGTCGTGGCTCTCTTTACTTTCTGTGACCCTGTCAAGGACTATGTCCAGGCCAACCCAGGCTGG
TACTGGGCATCCTATGCTGTGTTCTTTGCAACCTACCTGACCCTGGCTTGCTGTTCTGGACCCAGGAGGCATTTCCCCTGGAACCTGATTCTCCTGACCGTCTTT
ACCCTGTCCATGGCCTACCTCACTGGGATGCTGTCCAGCTACTACAACACCACCTCCGTGCTGCTGTGCCTGGGCATCACGGCCCTTGTCTGCCTCTCAGTCACC
GTCTTCAGCTTCCAGACCAAGTTCGACTTCACCTCCTGCCAGGGCGTGCTCTTCGTGCTTCTCATGACTCTTTTCTTCAGCGGACTCATCCTGGCCATCCTCCTA
CCCTTCCAATATGTGCCCTGGCTCCATGCAGTTTATGCAGCACTGGGAGCGGGTGTATTTACATTGTTCCTGGCACTTGACACCCAGTTGCTGATGGGTAACCGA
CGCCACTCGCTGAGCCCTGAGGAGTATATTTTTGGAGCCCTCAACATTTACCTAGACATCATCTATATCTTCACCTTCTTCCTGCAGCTTTTTGGCACTAACCGA
GAATGA
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>FAIM2|23017|protein
MTQGKLSVANKAPGTEGQQQVHGEKKEAPAVPSAPPSYEEATSGEGMKAGAFPPAPTAVPLHPSWAYVDPSSSSSYDNGFPTGDHELFTTFSWDDQKVRRVFVRK
VYTILLIQLLVTLAVVALFTFCDPVKDYVQANPGWYWASYAVFFATYLTLACCSGPRRHFPWNLILLTVFTLSMAYLTGMLSSYYNTTSVLLCLGITALVCLSVT
VFSFQTKFDFTSCQGVLFVLLMTLFFSGLILAILLPFQYVPWLHAVYAALGAGVFTLFLALDTQLLMGNRRHSLSPEEYIFGALNIYLDIIYIFTFFLQLFGTNR
E
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MTQGKLSVANKAPGTEGQQQVHGEKKEAPAVPSAPPSYEEATSGEGMKAGAFPPAPTAVPLHPSWAYVDPSSSSSYDNGFPTGDHELFTTFSWDDQKVRRVFVRK
VYTILLIQLLVTLAVVALFTFCDPVKDYVQANPGWYWASYAVFFATYLTLACCSGPRRHFPWNLILLTVFTLSMAYLTGMLSSYYNTTSVLLCLGITALVCLSVT
VFSFQTKFDFTSCQGVLFVLLMTLFFSGLILAILLPFQYVPWLHAVYAALGAGVFTLFLALDTQLLMGNRRHSLSPEEYIFGALNIYLDIIYIFTFFLQLFGTNR
E
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Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
---|---|---|---|---|---|---|---|---|---|---|---|
Score (No. of Studies) | No | 0 (1) | 0 (1) | 1 (1) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 3 (4) |
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|
#Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
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CAUCASIAN | |||||||||||
Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) | ASD | - - |
- - |
Case Control Based Association Studies: 0
Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
#Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
No Evidence. |
CNV Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Szatmari, 2007 | Europe, North America | SNP microarray | ASD | 1491 | - | - | - | - | - | 0 |
Linkage Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Spence, 2006 | USA | microsatellite-based genomic screen | ASD | 133 | - | 133 | - | 280 | - | - |
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | - | autism | 16 (6.25%) |
0.841044 | Down | 0.183255 | |||
|
Proteomics Studies:0
Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
---|---|---|---|---|---|---|---|---|---|
No Evidence. |
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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